Variant information



Systematic Name c.27-?_*?del (deletion of exons 3 and 4)
Protein name p.Arg9?
Mutation type exonic deletion
Domain N-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Female Rett syndrome-classical 4934
2 c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Female Rett syndrome-classical 4935